CHARGE syndrome with de novo frameshift mutation in a patient with total retinal detachment and large choroidal coloboma

Affiliations

• ¹ Department of Ophthalmology, Linkou Medical Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan.
• ² College of Medicine, Chang Gung University, Taoyuan, Taiwan.
• ³ Graduate Institute of Clinical Medical Sciences, Chang Gung University, Taoyuan, Taiwan.
• ⁴ Department of Ophthalmology, Edward S. Harkness Eye Institute, Columbia University Irving Medical Center, Columbia University, New York, USA.